MCID: RNL100
MIFTS: 51

Renal Hypodysplasia/aplasia 1

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 54 24 71
Renal Agenesis 12 50 24 56 71 29 52 14
Renal Adysplasia 12 24 71 29 13 69
Renal Aplasia 12 24 71
Rhda1 24 71
Congenital Absence of Kidneys Syndrome 69
Urogenital Adysplasia, Hereditary 24
Hereditary Urogenital Adysplasia 12
Renal Agenesis, Bilateral 56
Hereditary Renal Aplasia 12
Bilateral Renal Agenesis 24
Bra 24

Characteristics:

Orphanet epidemiological data:

56
renal agenesis, bilateral
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Italy),1-9/100000 (Netherlands),1-5/10000 (Ireland),1-9/100000 (Norway),1-9/100000 (Poland),1-9/1000000 (Spain),1-9/100000 (Hungary),1-5/10000 (Denmark),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Malta),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: infantile;
renal agenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in utero or in the perinatal period


HPO:

32
renal hypodysplasia/aplasia 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Renal Hypodysplasia/aplasia 1

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 411709disease definitionrenal agenesis (ra) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral ra or bilateral ra respectively; see these terms), accompanied by absent ureter(s).epidemiologythe annual incidence of ra is estimated at around 1/2,000. fetal prevalence of bilateral renal agenesis in europe has been estimated at 1/8,500.clinical descriptionmost patients with unilateral ra are asymptomatic if the other kidney is fully functional and the disease is commonly detected as a chance observation. however, hypertension, proteinuria and renal failure may develop in the long run (20-50% of cases at the age of 30). unilateral ra is occasionally associated with genital tract anomalies on the same side (e.g. seminal vesicle hypoplasia and absence of the vas deferens), cardiac anomalies (such as atrial or ventricular septal defects) and/or gastrointestinal anomalies (such as anal atresia). bilateral ra is characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.etiologyrenal agenesis results from a developmental failure of the ureteric bud and the metanephric mesenchyme. unilateral renal agenesis can be caused by mutations in many genes, such as ret (10q11.2), bmp4 (14q22-q23), fras1 (4q21.21), frem1 (9p22.3), or upk3a (22q13.31). a few cases of bilateral renal agenesis have been found to be caused by mutations in the ret, fgf20 (8p22) or itga8 (10p13) genes. maternal diabetes mellitus or use of specific drugs during pregnancy can also result in renal agenesis.genetic counselingin familial cases, unilateral ra is inherited in an autosomal dominant manner with incomplete penetrance. bilateral ra is inherited autosomal recessively.visit the orphanet disease page for more resources. last updated: 7/1/2014

MalaCards based summary : Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to aniridia renal agenesis psychomotor retardation and renal agenesis, unilateral, and has symptoms including low-set ears, hypertelorism and cleft palate. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Menthol and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and heart, and related phenotypes are mortality/aging and cardiovascular system

UniProtKB/Swiss-Prot : 71 Renal hypodysplasia/aplasia 1: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

OMIM : 54
Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). (191830)

Related Diseases for Renal Hypodysplasia/aplasia 1

Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 168)
id Related Disease Score Top Affiliating Genes
1 aniridia renal agenesis psychomotor retardation 12.1
2 renal agenesis, unilateral 12.0
3 hirschsprung disease with polydactyly, renal agenesis, and deafness 11.8
4 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 11.8
5 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 11.8
6 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.8
7 renal agenesis meningomyelocele mullerian defect 11.8
8 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.8
9 bilateral renal agenesis dominant type 11.8
10 double uterus-hemivagina-renal agenesis 11.8
11 bifid nose with or without anorectal and renal anomalies 11.4
12 potter's syndrome 11.4
13 kallmann syndrome 11.1
14 urogenital adysplasia 11.0
15 renal hypodysplasia/aplasia 2 11.0
16 congenital anomalies of kidney and urinary tract 10.9
17 fraser syndrome 1 10.9
18 congenital anomalies of kidney and urinary tract 2 10.9
19 mayer-rokitansky-kuster-hauser syndrome 10.9
20 murcs association 10.8
21 holzgreve syndrome 10.8
22 santos mateus leal syndrome 10.8
23 billet bear syndrome 10.8
24 ellis yale winter syndrome 10.8
25 upk3a-related renal adysplasia 10.8
26 ritscher-schinzel syndrome 1 10.7
27 neurofaciodigitorenal syndrome 10.7
28 short-rib thoracic dysplasia 3 with or without polydactyly 10.7
29 acrorenal-mandibular syndrome 10.7
30 megalocytic interstitial nephritis 10.7 GDNF RET
31 kidney disease 10.7
32 hypogonadotropic hypogonadism without anosmia, x-linked 10.7 GDNF RET
33 renal hypoplasia 10.6
34 deafness, autosomal dominant 68 10.5 FRAS1 FREM2
35 central hypoventilation syndrome, congenital 10.5 GDNF RET
36 congenital bilateral megacalycosis 10.5 GDNF PAX2 SALL1
37 paralytic ileus 10.5 CFTR GDNF RET
38 lymphangitis 10.4 CFTR FREM1
39 catsper-related male infertility 10.4 EYA1 SIX5
40 spinocerebellar ataxia, autosomal recessive 17 10.3 EYA1 PAX2
41 unilateral congenital megacalycosis 10.2 FRAS1 FREM1 FREM2 RET
42 auriculocondylar syndrome 3 10.2 EYA1 SIX5
43 cushing syndrome, familial 10.2 FRAS1 FREM1 FREM2 GRIP1
44 simosa craniofacial syndrome 10.2 FRAS1 FREM1 FREM2 GRIP1
45 kagami-ogata syndrome 10.1 HOXA2 SALL1
46 papillorenal syndrome 10.1
47 renal hypoplasia, unilateral 10.1
48 renal hypoplasia, bilateral 10.1
49 cardiomyopathy, dilated, 1j 10.1 EYA1 PAX2 SIX5
50 vaginitis 10.1

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 1:



Diseases related to Renal Hypodysplasia/aplasia 1

Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 1

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Feet:
club feet
talipes equinovarus

Genitourinary- Kidneys:
renal agenesis
renal dysplasia
renal adysplasia

Respiratory- Lung:
lung hypoplasia

Genitourinary- Ureters:
ureteral aplasia

Skeletal- Hands:
spade-like hands

Head And Neck- Face:
flattened nose
potter facies
wide-set eyes
receding chin

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios
anhydramnios

Head And Neck- Ears:
large, low-set ears
ears deficient in cartilage

Genitourinary- Bladder:
bladder hypoplasia
bladder abnormalities


Clinical features from OMIM:

191830

Human phenotypes related to Renal Hypodysplasia/aplasia 1:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 pulmonary hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002089
5 nonketotic hypoglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001958
6 fetal polyuria 56 32 frequent (33%) Frequent (79-30%) HP:0001563
7 renal agenesis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000104
8 oligohydramnios 56 32 hallmark (90%) Very frequent (99-80%) HP:0001562
9 tracheoesophageal fistula 56 32 frequent (33%) Frequent (79-30%) HP:0002575
10 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
11 depressed nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000457
12 non-midline cleft lip 56 32 occasional (7.5%) Occasional (29-5%) HP:0100335
13 urogenital fistula 56 32 frequent (33%) Frequent (79-30%) HP:0100589
14 abnormality of the sacrum 56 32 frequent (33%) Frequent (79-30%) HP:0005107
15 abnormality of female internal genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000008
16 sirenomelia 56 32 occasional (7.5%) Occasional (29-5%) HP:0010497
17 abnormality of the intestine 56 32 frequent (33%) Frequent (79-30%) HP:0002242
18 proteinuria 32 HP:0000093
19 retrognathia 32 HP:0000278
20 talipes equinovarus 32 HP:0001762
21 hypertension 32 HP:0000822
22 bicornuate uterus 32 HP:0000813
23 renal dysplasia 32 HP:0000110
24 potter facies 32 HP:0002009
25 primary amenorrhea 32 HP:0000786
26 vaginal atresia 32 HP:0000148
27 malformation of the heart and great vessels 56 Frequent (79-30%)
28 abnormality of the foot 32 HP:0001760
29 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.25 ITGA8 PAX2 RET SALL1 SIX2 CFTR
2 cardiovascular system MP:0005385 10.22 EYA1 FRAS1 FREM2 GDNF GRIP1 HOXA2
3 growth/size/body region MP:0005378 10.22 FREM1 FREM2 GDNF GRIP1 HOXA2 HS2ST1
4 digestive/alimentary MP:0005381 10.15 CFTR EYA1 FRAS1 FREM1 GDNF HOXA2
5 nervous system MP:0003631 10.1 EYA1 FGF20 FREM1 FREM2 GDNF GRIP1
6 craniofacial MP:0005382 10.05 CFTR EYA1 FRAS1 FREM1 FREM2 HOXA2
7 renal/urinary system MP:0005367 10.03 FRAS1 FREM1 FREM2 GDNF GRIP1 HS2ST1
8 hearing/vestibular/ear MP:0005377 10 EYA1 FGF20 FREM2 HOXA2 ITGA8 PAX2
9 limbs/digits/tail MP:0005371 9.98 SALL1 FRAS1 FREM1 FREM2 GRIP1 HS2ST1
10 muscle MP:0005369 9.91 EYA1 FREM1 FREM2 GDNF HOXA2 RET
11 reproductive system MP:0005389 9.76 CFTR EYA1 FREM1 FREM2 GDNF PAX2
12 respiratory system MP:0005388 9.56 CFTR EYA1 FRAS1 FREM1 FREM2 HOXA2
13 vision/eye MP:0005391 9.28 FRAS1 FREM1 FREM2 GRIP1 HS2ST1 PAX2

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

Drugs for Renal Hypodysplasia/aplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Anesthetics
3 Anesthetics, Local
4 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Renal Agenesis Fetal Therapy Recruiting NCT03101891 Normal Saline, 0.9% injectable solution
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Genetic Tests for Renal Hypodysplasia/aplasia 1

Genetic tests related to Renal Hypodysplasia/aplasia 1:

id Genetic test Affiliating Genes
1 Renal Adysplasia 29
2 Renal Agenesis 29 24 RET
3 Urogenital Adysplasia, Hereditary 24
4 Renal Hypodysplasia/aplasia 1 24 ITGA8

Anatomical Context for Renal Hypodysplasia/aplasia 1

MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:

39
Kidney, Lung, Heart, Uterus, Eye

Publications for Renal Hypodysplasia/aplasia 1

Variations for Renal Hypodysplasia/aplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:

71
id Symbol AA change Variation ID SNP ID
1 ITGA8 p.Gly407Arg VAR_071107 rs374664941

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
2 RET NM_020975.4(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh37 Chromosome 10, 43625686: 43625686
3 ITGA8 NM_003638.2(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 GRCh37 Chromosome 10, 15573047: 15573047
4 ITGA8 NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs) deletion Pathogenic rs587777280 GRCh37 Chromosome 10, 15649814: 15649818
5 ITGA8 NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 GRCh37 Chromosome 10, 15686209: 15686209

Expression for Renal Hypodysplasia/aplasia 1

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.

Pathways for Renal Hypodysplasia/aplasia 1

GO Terms for Renal Hypodysplasia/aplasia 1

Cellular components related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.92 FRAS1 FREM1 FREM2 FREM3

Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 EYA1 GRIP1 PAX2 RET SALL1
2 cell adhesion GO:0007155 9.97 ANOS1 FREM1 FREM2 FREM3 ITGA8 RET
3 kidney development GO:0001822 9.72 ITGA8 SALL1 SIX2
4 inner ear morphogenesis GO:0042472 9.69 EYA1 ITGA8 PAX2
5 cell communication GO:0007154 9.67 FRAS1 FREM1 FREM2 FREM3
6 ureteric bud development GO:0001657 9.62 EYA1 GDNF RET SALL1
7 cochlea morphogenesis GO:0090103 9.61 EYA1 PAX2
8 regulation of neuron differentiation GO:0045664 9.6 EYA1 FGF20
9 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 GDNF PAX2
10 middle ear morphogenesis GO:0042474 9.57 EYA1 SIX2
11 morphogenesis of an epithelium GO:0002009 9.56 FRAS1 FREM2
12 branching involved in ureteric bud morphogenesis GO:0001658 9.56 EYA1 GDNF PAX2 SALL1
13 enteric nervous system development GO:0048484 9.54 GDNF RET
14 outer ear morphogenesis GO:0042473 9.52 EYA1 SALL1
15 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.48 GDNF PAX2
16 ureter maturation GO:0035799 9.46 PAX2 RET
17 metanephros development GO:0001656 9.46 EYA1 GDNF ITGA8 SIX2
18 positive regulation of metanephric glomerulus development GO:0072300 9.43 PAX2 RET
19 mesodermal cell fate specification GO:0007501 9.13 EYA1 PAX2 SIX2
20 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 8.92 GDNF PAX2 SALL1 SIX2
21 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.07 EYA1 GDNF PAX2 SALL1 SIX2 SIX5
22 multicellular organism development GO:0007275 10.01 EYA1 FREM1 FREM2 HOXA2 ITGA8 PAX2

Molecular functions related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 FGF20 GDNF RET

Sources for Renal Hypodysplasia/aplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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